PMID: 22859919

Chan J, Vandeberg JL
Hepatobiliary transport in health and disease.
Clin Lipidol. 2012 Apr;7(2):189-202., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 22859919:84:40
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 22859919:84:30
status: NEW
view ABCB11 p.Glu297Gly details
The most common mutations are E297G and D482G [26]. Login to comment
85 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 22859919:85:40
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 22859919:85:52
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 22859919:85:30
status: NEW
view ABCB11 p.Glu297Gly details
The disease progresses more slowly in patients with D482G mutations, and they develop cirrhosis at an older age [24]. Login to comment
86 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 22859919:86:52
status: NEW
view ABCB11 p.Asp482Gly details
The disease progresses more slowly in patients with D482G mutations, and they develop cirrhosis at an older age [24]. Login to comment
91 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22859919:91:4
status: NEW
view ABCB11 p.Val444Ala details
The V444A polymorphism is associated with susceptibility to drug-induced cholestasis and has been shown to be associated with lower ABCB11 expression levels. Login to comment
92 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22859919:92:4
status: NEW
view ABCB11 p.Val444Ala details
The V444A polymorphism is associated with susceptibility to drug-induced cholestasis and has been shown to be associated with lower ABCB11 expression levels. Login to comment
94 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22859919:94:4
status: NEW
view ABCB11 p.Val444Ala details
The V444A variant is also associated with ICP type 2 patients [28]. Login to comment
95 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22859919:95:4
status: NEW
view ABCB11 p.Val444Ala details
The V444A variant is also associated with ICP type 2 patients [28]. Login to comment